Activity
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5 actions
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| Dystonia - complex v0.118 | POLR3A | Zornitza Stark Marked gene: POLR3A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.118 | POLR3A | Zornitza Stark Gene: polr3a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.118 | POLR3A | Zornitza Stark Classified gene: POLR3A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.118 | POLR3A | Zornitza Stark Gene: polr3a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.117 | POLR3A |
Zornitza Stark gene: POLR3A was added gene: POLR3A was added to Dystonia - complex. Sources: Expert list Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR3A were set to 32600288; 32373668; 31940116; 31932101; 29618326 Phenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694; Striatal abnormalities; Dystonia Review for gene: POLR3A was set to GREEN Added comment: Multiple individuals reported where dystonia is part of the phenotype. Some of these have had hypomyelinating leukodystrophy, whereas others have had very prominent striatal abnormalities on MRI, in the absence of white matter changes. It is unclear whether this represents a continuum or a separate disorder. Sources: Expert list |
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